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2020 (v1)PublicationUploaded on: April 14, 2023
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2021 (v1)Publication
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Uploaded on: April 14, 2023 -
2021 (v1)Publication
Background: Various strategies have been proposed for the treatment of gelastic seizures due to hypothalamic hamartomas (HH), advancing from surgical removal techniques toward functional disconnection strategies. One of the most recent procedure is the Magnetic Resonance guided Laser Interstitial Thermal Therapy (MRg-LITT), which has...
Uploaded on: April 14, 2023 -
2018 (v1)Publication
Moyamoya disease is a steno-occlusive cerebrovascular disease of unknown etiology involving the terminal portion of the internal carotid artery and the proximal portions of the anterior and middle cerebral arteries with associated collateral vascular network. When the vascular pattern is associated with a particular condition (e.g., Type 1...
Uploaded on: April 14, 2023 -
2016 (v1)Publication
OBJECTIVE: Cranioplasty is a reconstructive procedure used to restore skull anatomy and repair skull defects. Optimal skull reconstruction is a challenge for neurosurgeons, and the strategy used to achieve the best result remains a topic of debate, especially in pediatric patients for whom the continuing skull growth makes the choice of...
Uploaded on: April 14, 2023 -
2016 (v1)Publication
Osteoblastoma is a rare bone tumour. It is occasionally associated with an aneurysmal bone cyst (ABC). Several treatment strategies can be adopted. We report a challenging case of an osteoblastoma associated with ABC of the lumbar spine in a 2-year-old boy. The pathogenesis and the critical management of the disease are discussed.
Uploaded on: April 14, 2023 -
2016 (v1)Publication
Background Spontaneous or idiopathic intramedullary bleeding is a very rare event in pediatric patients. This diagnosis requires an extended clinical, laboratory, and radiologic work-up to rule out all potential causes of hematomyelia. However, children may present with hematomyelia or spinal cord injury without radiographic abnormality even...
Uploaded on: April 14, 2023 -
2015 (v1)Publication
We report on two patients with an unusual combination of achondroplasia and surgically treated sagittal synostosis and scaphocephaly. The most common achondroplasia mutation, p.Gly380Arg in fibroblast growth factor receptor 3 (FGFR3), was detected in both patients. Molecular genetic testing of FGFR1, FGFR2, FGFR3 and TWIST1 genes failed to...
Uploaded on: April 14, 2023 -
2022 (v1)Publication
Background: Since external ventricular drainage (EVD) related infections are usually due to skin flora, an extradural intra/extra-cranial accessory device, developed for pediatric patients under three years of age undergoing EVD positioning, is described. The aim of this paper is to provide technical description of this device, underlining the...
Uploaded on: February 14, 2024 -
2021 (v1)Publication
OBJECTIVE The objective of this study was to describe the clinical and neuroradiological characteristics of a cohort of preterm infants who had undergone external ventricular drain insertion as a temporary measure to treat posthemorrhagic ventricular dilatation. In addition, the authors investigated the factors predicting permanent shunt...
Uploaded on: February 14, 2024 -
2022 (v1)Publication
Purpose To explore the relationships between clinical-radiological features and surgical outcomes in subjects with interhemispheric cysts (IHC) and corpus callosum anomalies. Methods We reviewed the clinico-radiological and neurosurgical data of 38 patients surgically treated with endoscopic fenestration, shunting, or combined approaches from...
Uploaded on: March 3, 2024 -
2022 (v1)Publication
: Segmental overgrowth syndromes include a group of clinical entities, all characterized by the abundant proliferation of tissues or organs in association with vascular abnormalities. These syndromes show a wide spectrum of severity ranging from limited involvement of only small areas of the body to complex cases with impressive distortions of...
Uploaded on: January 31, 2024 -
2020 (v1)Publication
The clinical and radiological spectrum of spondylocostal dysostosis syndromes encompasses distinctive costo-vertebral anomalies. RIPPLY2 biallelic pathogenic variants were described in two distinct cervical spine malformation syndromes: Klippel–Feil syndrome and posterior cervical spine malformation. RIPPLY2 is involved in the determination of...
Uploaded on: January 31, 2024 -
2022 (v1)Publication
The role of MR Arterial-Spin-Labeling Cerebral Blood Flow maps (ASL-CBF) in the assessment of pediatric focal epilepsy is still debated. We aim to compare the Seizure Onset Zone (SOZ) detection rate of three methods of evaluation of ASL-CBF: 1) qualitative visual (qCBF), 2) z-score voxel-based quantitative analysis of index of asymmetry...
Uploaded on: February 4, 2024 -
2024 (v1)Publication
PurposeThis study aimed to assess the real-world management of achondroplasia in Italy.MethodsTwo online surveys addressed to (1) parents/caregivers of individuals with achondroplasia and (2) Italian clinicians managing individuals with achondroplasia were conducted to assess real-world perspectives on achondroplasia management. Both surveys...
Uploaded on: July 3, 2024